Crowdfunding helps seven-month-old SMA patient access ₹10 crore gene therapy

A seven-month-old infant diagnosed with Spinal Muscular Atrophy (SMA) at five weeks of age has received a one-time gene replacement therapy at Aster CMI Hospital in Bengaluru through a crowdfunding initiative.

SMA is a rare inherited neuromuscular disorder that progressively affects motor neurons — the nerve cells responsible for controlling muscle movement. It is most commonly caused by abnormalities in the SMN1 gene, resulting in inadequate production of the Survival Motor Neuron (SMN) protein.

Affected infants can develop muscle weakness and have difficulty achieving milestones such as holding their head up, sitting, and moving independently. In severe cases, the muscles involved in swallowing and breathing can also be affected.

The infant, weighing 6.8 kg at the time of treatment, received onasemnogene abeparvovec, a gene replacement therapy designed to address the underlying genetic cause of SMA. The overall cost was around ₹10 crore, according to the hospital. The entire amount was raised through public contributions.

Early diagnosis

The case highlights both the importance of early diagnosis in SMA and the financial challenges families can face in accessing newer gene therapies.

In this case, clinical assessment followed by genetic testing confirmed SMA when the child was five weeks old. The early diagnosis enabled the treating team to begin disease-modifying treatment without delay.

The infant was initially started on risdiplam, along with supportive care, while the medical team evaluated and prepared the child for gene replacement therapy.

“Spinal Muscular Atrophy is a progressive condition in which timely intervention is essential to preserve motor-neuron function. Disease-modifying therapies have significantly changed the treatment landscape for children with SMA,” said Prabhudev M. Hiremath, paediatric neurologist at the hospital.

He said the diagnosis at five weeks allowed the team to initiate risdiplam early, while the child was being assessed for gene replacement therapy. “The subsequent administration of gene replacement therapy at an early age was an important step in the child’s treatment journey, as earlier treatment is generally associated with better motor outcomes,” he said.

Gene therapy

The infant subsequently received onasemnogene abeparvovec. The therapy delivers a functional copy of the SMN1 gene, enabling cells to produce the SMN protein required for motor-neuron survival. The treatment involved pre-treatment evaluation, weight-based dosing and close multidisciplinary monitoring during and after administration.

N. Karthik Nagesh, Programme Director, Paediatric Centres of Excellence at Aster Hospitals, Karnataka, and Lead Neonatologist, said the case was a “race against time”, with early clinical suspicion and genetic testing allowing treatment to begin promptly.

Crowdfunding

For the family, however, diagnosis was followed by the challenge of financing the treatment. The cost of gene replacement therapy was beyond their means, prompting them to turn to crowdfunding.

People who had no personal connection with the family contributed to the campaign, helping raise the entire amount.

Parimala V. Thirumalesh, Lead Senior Consultant, Neonatology and Pediatrics, said early diagnosis, careful evaluation and close monitoring were important in the child’s treatment journey.